Patients with Fabry disease
Family members of Fabry disease patients
Newborns identified through screening programs
Individuals at high risk for Fabry disease
The Fabry Disease Research and Treatment Center at Taipei Veterans General Hospital originated from Asia’s first Rare Disease Research and Treatment Center, established in 2011. Bringing together specialists in genetics, cardiology, nephrology, neurology, pathology, and genetic counseling, the Center provides comprehensive, patient-centered care from newborn screening and diagnosis to treatment and long-term follow-up. The Center was the first to identify the exceptionally high prevalence of Fabry disease in Taiwan and has established one of the world’s leading Fabry disease patient registries and biobanks. Its research in disease natural history, biomarkers, cardiac involvement, enzyme replacement therapy, and gene therapy has contributed significantly to international clinical practice and treatment guidelines. Beyond clinical care, the Center integrates healthcare, research, and policy resources across Taiwan to promote newborn screening, family screening, early diagnosis, and timely treatment, improving patient outcomes and reducing disease burden. Through international collaboration and innovative research, the Center continues to advance Fabry disease care and awareness, serving as a global benchmark for rare disease care and precision medicine.
First to identify Taiwan as having the highest prevalence of Fabry disease worldwide, transforming the global understanding of late-onset Fabry disease.
Established the world's largest Fabry disease patient registry and biobank, identifying more than 2,300 individuals carrying pathogenic GLA variants.
Established the world's most comprehensive Fabry Disease Research and Treatment Center, integrating newborn screening, precision diagnosis, genetic counseling, multidisciplinary care, and lifelong follow-up.
Generated landmark research findings that have influenced international guidelines for the diagnosis, monitoring, and treatment of Fabry disease.
Created the world's first IVS4+919G>A Fabry disease mouse model, providing a unique platform for disease mechanism studies and therapeutic development.
Developed the world's first high-throughput molecular screening platform for Fabry disease, significantly improving the efficiency of newborn screening.
Leading the development of gene therapy, gene editing, and precision medicine approaches, advancing next-generation treatments for Fabry disease worldwide.
Established the world's largest Fabry disease patient registry and biobank, identifying more than 2,300 individuals with GLA variants and supporting numerous disease research and precision medicine initiatives.
Administered more than 28,000 enzyme replacement therapy (ERT) infusions, demonstrating extensive experience in the long-term management of rare diseases.
Screened over one million newborns for Fabry disease, establishing one of the world's most comprehensive Fabry disease newborn screening programs.
Established a world-leading Fabry disease newborn screening program, significantly improving early diagnosis and enabling timely monitoring before irreversible organ damage occurs.
Developed a comprehensive family screening and genetic testing strategy, successfully identifying a large number of previously unrecognized patients and carriers, thereby improving diagnostic yield and efficiency.
Established a multidisciplinary care model integrating cardiology, nephrology, neurology, and medical genetics, providing comprehensive and continuous patient-centered care.
Demonstrated that early diagnosis and timely treatment can effectively delay or reduce the development of cardiac hypertrophy and renal function deterioration, leading to improved long-term outcomes and quality of life.
Generated landmark research findings that have influenced international strategies for the diagnosis, treatment, and follow-up of Fabry disease, and have been incorporated into global clinical practice and treatment guidelines.
More than 28,000 Fabry disease enzyme replacement therapy (ERT) infusions have been administered, supported by a comprehensive treatment safety monitoring system.
Over the past three years, 57 serious adverse events were reported, with only one case considered potentially treatment-related, demonstrating a favorable safety profile.
A standardized adverse event assessment, reporting, and follow-up management system has been established, with regular safety reports submitted to the Taiwan Food and Drug Administration (TFDA).
A routine anti-drug antibody monitoring program has been implemented. Patients with elevated antibody levels received timely interventions, resulting in significant antibody reduction and continued treatment.
A satisfaction survey of 60 returning patients conducted over the past six months demonstrated 100% overall satisfaction with the professionalism of the healthcare team and the treatment environment.
Nearly 100% of patients indicated that they would choose the Center again for future treatment and would recommend its care services to other patients.
First to identify the exceptionally high prevalence of Fabry disease in Taiwan, revealing the widespread occurrence of late-onset Fabry disease and transforming global approaches to its diagnosis and clinical management.
Established the world's largest Fabry disease patient registry and biobank, with more than 2,300 individuals carrying GLA variants identified. The Center also ranks No. 1 in the Fabry Outcome Survey (FOS), the world's largest international Fabry disease registry, and Director Dau-Ming Niu serves as the only Asian member of the FOS Steering Committee.
Developed the world's first IVS4+919G>A Fabry disease mouse model and pioneered a high-throughput molecular screening platform, providing a critical foundation for disease mechanism studies, drug development, and gene therapy research.
Produced internationally influential research that has been incorporated into global clinical practice and treatment strategies, continuing to advance the diagnosis, treatment, and long-term management of Fabry disease worldwide.
Signed Memoranda of Understanding (MOUs) with Haiphong University of Medicine and Pharmacy (Vietnam) and the University of Manila (Philippines), supporting the development of biochemical testing, genetic diagnosis, and clinical care systems for Fabry disease across Southeast Asia.
Established a comprehensive model for newborn screening, family screening, and early intervention in Fabry disease, significantly improving diagnostic rates and treatment outcomes.
Developed a multidisciplinary care system that enhances long-term prognosis and quality of life while reducing the risk of major organ complications.
Research findings have influenced international clinical guidelines and medical practice, improving the quality of Fabry disease care worldwide.
Established the world's largest Fabry disease patient registry and biobank, advancing precision medicine, innovative therapies, and the sustainable development of rare disease care.
